VMA21

Summary

Gene Symbol: VMA21
Description: VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
Alias: MEAX, XMEA, myopathy with excessive autophagy protein, vacuolar ATPase assembly integral membrane protein VMA21
Species: human

Top Publications

  1. pmc Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers
    Anna Nogalska
    USC Neuromuscular Center, Department of Neurology, University of Southern California Keck School of Medicine, Good Samaritan Hospital, Los Angeles, CA 90017 1912, USA
    Am J Pathol 177:1377-87. 2010
  2. doi Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
    Takashi Kurashige
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan Electronic address
    Neuromuscul Disord 23:911-6. 2013
  3. doi VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
    Nivetha Ramachandran
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada
    Acta Neuropathol 125:439-57. 2013
  4. pmc A genome-wide enhancer screen implicates sphingolipid composition in vacuolar ATPase function in Saccharomyces cerevisiae
    Gregory C Finnigan
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
    Genetics 187:771-83. 2011
  5. ncbi [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 50:1-6. 2010
  6. doi VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification
    Nivetha Ramachandran
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Cell 137:235-46. 2009
  7. pmc VMA21 deficiency: a case of myocyte indigestion
    Michio Hirano
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Cell 137:213-5. 2009
  8. ncbi Genetic and molecular interactions of the Erv41p-Erv46p complex involved in transport between the endoplasmic reticulum and Golgi complex
    Leah M Welsh
    Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA
    J Cell Sci 119:4730-40. 2006
  9. ncbi Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies
    Kazuma Sugie
    Department of Neuromuscular Research, National Institute of Neuroscience, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Neuropathol Exp Neurol 64:513-22. 2005
  10. ncbi X-linked vacuolar myopathies: two separate loci and refined genetic mapping
    M Auranen
    National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
    Ann Neurol 47:666-9. 2000

Research Grants

Scientific Experts

  • Michio Hirano
  • Ichizo Nishino
  • Tom Stevens
  • Nivetha Ramachandran
  • Takashi Kurashige
  • Michel Fardeau
  • Jean Francois Pellissier
  • Zhi Ping Ren
  • Nyrie Israelian
  • Cameron A Ackerley
  • Morris F Manolson
  • Paul Paroutis
  • Carlo Minetti
  • Brigitte Chabrol
  • Gregory C Finnigan
  • John T Kissel
  • Peixiang Wang
  • Don J Mahuran
  • Ray Guo
  • Taline Naranian
  • Nicolas Levy
  • Iulia Munteanu
  • Hannu Kalimo
  • Bjarne Udd
  • Jennifer J Rilstone
  • Berge A Minassian
  • Chetankumar S Tailor
  • Anna Nogalska
  • Ikuya Nonaka
  • Leah M Welsh
  • Kazuma Sugie
  • Takeshi Nakamura
  • Masayasu Matsumoto
  • Keita Kondo
  • Alessandra Ruggieri
  • Yukiko K Hayashi
  • Yoshito Nagano
  • Rie Tsuburaya
  • Yu Yamazaki
  • Takemori Yamawaki
  • Tetsuya Takahashi
  • Margret Ryan
  • Tom H Stevens
  • Carla D'Agostino
  • Valerie Askanas
  • M Auranen
  • L Villard
  • W King Engel
  • Chiara Terracciano
  • Pauline Aubourg
  • K J Hill
  • Ole N Jensen
  • Stefan Otte
  • L A Graham
  • Charles Boone
  • Amy Hin Yan Tong
  • Eri Arikawa-Hirasawa
  • Paul Saftig
  • Yoshimichi Kozuka
  • T H Stevens
  • Satoru Noguchi
  • Kurt von Figura
  • Mikihito Tanaka
  • Satoshi Ueno
  • Chuanzhu Yan
  • S W Scherer
  • J P Louboutin
  • H Kalino
  • D Recan
  • N Levy
  • D Figarella-Branger
  • M Coquet
  • M Fardeau
  • M Fontes
  • M Villanova
  • B A Minassian
  • V Des Portes
  • F Muntoni
  • J F Pellissier
  • J Chelly
  • B Chabrol
  • M N Ho
  • M A Lindorfer
  • P Saviranta
  • A de la Chapelle
  • H Lang
  • A E Lehesjoki
  • H Kalimo
  • V Sonninen
  • M Lindlof

Detail Information

Publications15

  1. pmc Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers
    Anna Nogalska
    USC Neuromuscular Center, Department of Neurology, University of Southern California Keck School of Medicine, Good Samaritan Hospital, Los Angeles, CA 90017 1912, USA
    Am J Pathol 177:1377-87. 2010
    ..D and B, increased levels of LC3-II, decreased phosphorylation of p70S6 kinase, and decreased expression of VMA21, a chaperone for assembly of lysosomal V-ATPase...
  2. doi Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
    Takashi Kurashige
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan Electronic address
    Neuromuscul Disord 23:911-6. 2013
    ..164-7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings...
  3. doi VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
    Nivetha Ramachandran
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada
    Acta Neuropathol 125:439-57. 2013
    ..We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an ..
  4. pmc A genome-wide enhancer screen implicates sphingolipid composition in vacuolar ATPase function in Saccharomyces cerevisiae
    Gregory C Finnigan
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
    Genetics 187:771-83. 2011
    ..genome-wide enhancer screen in the budding yeast Saccharomyces cerevisiae with two mutant assembly factor alleles, VMA21 with a dysfunctional ER retrieval motif (vma21QQ) and vma21QQ in combination with voa1Δ, a nonessential assembly ..
  5. ncbi [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 50:1-6. 2010
    ..Other AVSF myopathies include X-linked myopathy with excessive autophagy which is now known to be caused by VMA21 mutations...
  6. doi VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification
    Nivetha Ramachandran
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Cell 137:235-46. 2009
    ..We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p it is an ..
  7. pmc VMA21 deficiency: a case of myocyte indigestion
    Michio Hirano
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Cell 137:213-5. 2009
    ..In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism.
  8. ncbi Genetic and molecular interactions of the Erv41p-Erv46p complex involved in transport between the endoplasmic reticulum and Golgi complex
    Leah M Welsh
    Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA
    J Cell Sci 119:4730-40. 2006
    ..We identified synthetic interactions with vma12, vma21, vma22 and vps1 deletion mutations...
  9. ncbi Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies
    Kazuma Sugie
    Department of Neuromuscular Research, National Institute of Neuroscience, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Neuropathol Exp Neurol 64:513-22. 2005
    ..In conclusion, AVSF with acetylcholinesterase activity are autolysosomes surrounded by secondarily generated intracytoplasmic sarcolemma-like structure and delineates a subgroup of AVMs...
  10. ncbi X-linked vacuolar myopathies: two separate loci and refined genetic mapping
    M Auranen
    National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
    Ann Neurol 47:666-9. 2000
    ..and mental retardation (XVCM-MR) and a second form, termed X-linked myopathy with excessive autophagy (XMEA), that spares cardiac muscle and has no central nervous system involvement...
  11. ncbi Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
    L Villard
    INSERM U491, Universite de la Mediterrannee, Faculté de médecine La Timone, Marseille, France
    Eur J Hum Genet 8:125-9. 2000
    X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy...
  12. pmc Assembly of the yeast vacuolar H+-ATPase occurs in the endoplasmic reticulum and requires a Vma12p/Vma22p assembly complex
    L A Graham
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
    J Cell Biol 142:39-49. 1998
    Three previously identified genes from Saccharomyces cerevisiae, VMA12, VMA21, and VMA22, encode proteins localized to the endoplasmic reticulum (ER)...
  13. ncbi Isolation of vacuolar membrane H(+)-ATPase-deficient yeast mutants; the VMA5 and VMA4 genes are essential for assembly and activity of the vacuolar H(+)-ATPase
    M N Ho
    Institute of Molecular Biology, University of Oregon, Eugene 97403
    J Biol Chem 268:221-7. 1993
    ..Representatives in five complementation groups were identified, including four novel mutant vma5, vma21, vma22, and vma23, all of which were defective in vacuolar ATPase enzyme activity...
  14. pmc Vma21p is a yeast membrane protein retained in the endoplasmic reticulum by a di-lysine motif and is required for the assembly of the vacuolar H(+)-ATPase complex
    K J Hill
    Institute of Molecular Biology, University of Oregon, Eugene 97403 1229
    Mol Biol Cell 5:1039-50. 1994
    ..The yeast vma21 mutant was isolated from a screen to identify mutants defective in V-ATPase function...
  15. pmc Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq
    P Saviranta
    Department of Biology, University of Turku, Finland
    Am J Hum Genet 42:84-8. 1988
    ..suffering from a recently described hereditary muscle disease named X-linked myopathy with excessive autophagy (XMEA). Significant lod scores excluding linkage to the Duchenne-Becker muscular dystrophy locus were found...

Research Grants14

  1. SORTING AND TRANSPORT OF YEAST MEMBRANE PROTEINS
    Tom Stevens; Fiscal Year: 1993
    ..We will focus on the VMA6, VMA21, and VMA22 genes and their encoded proteins, since these factors are absolutely required for the assembly of both ..
  2. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2010
    ....
  3. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2009
    ....
  4. Pathogenesis of a Novel Limb-Girdle Muscular Dystrophy
    Michio Hirano; Fiscal Year: 2003
    ..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..
  5. Molecular Pathogenesis and Treatment of MNGIE
    Michio Hirano; Fiscal Year: 2010
    ..We propose to study a mouse model to understand and to treat this disorder. Studies of MNGIE may be relevant to a variety of human diseases, aging, comprehending stability of genetic material, and possibly neurodegenerative diseases. ..